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Table 4 Ages of end stage renal disease in families with likely pathogenic mutation found in the PKD1 gene

From: Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease

Family

Nucleotide change

Amino acid change/predicted effect

Ages of end stage renal disease in the family in years, M-male, F-female

429

c.4551_4581del31

p.Tyr1517X

M 39, M 26

236

c.5650G > T

p.Glu1884X

M 52

478

c.5824_5825dupC

p.Arg1942ProfsX47

M 40

301

c.5995G > A

p.Gly1999Ser

M 54

237

c.6960_6961insG

p.Ser2321GlufsX98

M 48, F 45

253

c.7000_7001dupGCTGGCG

p.Val2334GlyfsX87

M 61, M 60, M 36

403

c.7758_7761del4

p.Trp2587CysfsX31

F 60

357

c.7856 T > G

p.Leu2619Arg

M 41, F 57

482

c.8792-2A > T

Probable splice defect

M 43

479

c.9416_9417dupACGTGGG

p.Ile3140ArgfsX40

F 79, M 55, M 51

430

c.9584G > A

p.Trp3195X

M 57

391

c.9904G > C9906_9907delTG

p.Val3302LeufsX86

M 61

413

c.10821 + 4_10821 + 6delAGG

Probable splice defect

F43, F 49

330

c.10951G > A

p.Gly3651Ser

F73, F71, M 73

297

c.10980_10982delAGC

p.Glu3660_Ala3661delinsAsp

M 41, F 44, F 35

385

c.11172G > A

p.Trp3724X

F 49

419

c.11248C > G

p.Arg3750Gly

F 44

420

c.11884 C > T

p.Gln3962X

F 45, F 46

425

c.12004-15_12015del27

Probable splice defect

F 65, F 51

215

c.12061 C > T

p.Arg4021X

F 58, M 50, M 50

454

c.12439_12441delAAG

p.Lys4147del

M 67